Cases reported "Pyloric Stenosis"

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11/238. The posterior approach to pyloric sonography.

    Overlying bowel gas or gastric distension may occasionally hinder the sonographic diagnosis of hypertrophic pyloric stenosis. To address this problem, a novel approach for obtaining posterior views of the pylorus is reported. Utilizing this approach may decrease the incidence of nondiagnostic pyloric ultrasonography. ( info)

12/238. Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of rothmund-thomson syndrome?

    A syndrome is described in three isolated patients in whom the main features are bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases include cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia and sensorineural deafness. This combination may represent a severe form of rothmund-thomson syndrome or possibly a previously unrecognized condition. ( info)

13/238. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

    We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the first demonstration of beta4 integrin expression in human glomeruli. We postulate a role for altered beta4 integrin function in the mediation of the glomerular permeability defect. ( info)

14/238. Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review.

    Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detected partial trisomy 9q. This partial trisomy 9q has been analysed in detail to determine the size of the duplication and to characterise the chromosomal breakpoints. According to the data gained by different molecular cytogenetic techniques, such as fluorescence in situ hybridisation (FISH) with whole and partial chromosome painting probes, yeast artificial chromosome (YAC) probes, and comparative genomic hybridisation (CGH), the derivative chromosome 9 can be described as dup(9)(pter-->q22. 1::q31.1-->q22.1::q31.1--> q22.1::q31.1-->qter). Four breakpoint spanning YACs have been identified (y806f02, y906g6, y945f5, and y747b3) for the proximal breakpoint. According to this new case and previously published data, the recently postulated putative critical region for pyloric stenosis can be narrowed down to the subbands 9q22.1-q31.1 and is the result of either partial trisomy of gene(s) located in this region or a gene disrupted in 9q31. ( info)

15/238. Laparoscopic pyloroplasty in idiopathic hypertrophic pyloric stenosis in an adult.

    BACKGROUND AND OBJECTIVES: Idiopathic hypertrophic pyloric stenosis, in adults, is a rare disease. Partial gastrectomy, gastroenterostomy, pyloromyotomy, pyloroplasty and endoscopic dilatation have all been recommended with variable results. A 54-year-old white female is presented with the onset of symptoms of idiopathic hypertrophic pyloric stenosis one year prior to operation. Two endoscopic pyloric sphincter balloon dilatations provided only temporary relief. METHOD: A laparoscopic pyloroplasty was performed. RESULT: The patient tolerated a solid diet on postoperative day three. The patient was symptom-free at a 13 month follow-up. CONCLUSIONS: Idiopathic hypertrophic pyloric stenosis in adults can be treated with laparoscopic pyloroplasty, offering a minimally invasive alternative to open repair. ( info)

16/238. Early death in two sisters with Hennekam syndrome.

    We report on two sisters with facial anomalies, protein-losing enteropathy, and intestinal lymphangiectasia consistent with the diagnosis of Hennekam syndrome. Both patients had a number of other anomalies not previously described in this autosomal recessive disorder, i.e., primary hypothyroidism, hypertrophic pyloric stenosis, and an early fatal outcome. These cases support the autosomal recessive transmission and the expansion of the phenotype of the Hennekam syndrome. ( info)

17/238. Palliation of pyloric stenosis caused by gastric cancer using an endoscopically placed covered ultraflex stent: covered stent inside an occluded uncovered stent.

    A 71-year-old man developed pyloric stenosis caused by gastric cancer. vomiting and nausea resolved after the insertion of an uncovered Ultraflex stent (length 10 cm, inner diameter 18-23 mm) through a 7-cm-long stenosis, and the patient was able to eat a soft diet. After 6 weeks, stent occlusion occurred due to tumor ingrowth and accumulation of food residue. Endoscopic observation showed a very narrow residual lumen. A covered Ultraflex stent (length 10 cm, inner diameter 18-23 mm) was inserted through the first stent and expanded to its maximum diameter over the next 2 days. The patient's vomiting and nausea improved rapidly. He died 6 months after the second stenting procedure, from metastatic tumor spread, having remained free of nausea and vomiting. In this case, a covered metallic stent prevented tumor ingrowth and maintained gastrointestinal patency. ( info)

18/238. gastrectomy and osteomalacia: an association not to be forgotten.

    Metabolic bone disease due to calcium and vitamin d malabsorption is a well-defined consequence of gastrectomy and to a lesser extent of pancreatic insufficiency. The diversity of its presentation, however, can be misleading, resulting in delayed diagnosis or a thorough investigation for possible underlying neoplasias being undertaken. We describe the case of a man with partial gastrectomy and pancreatectomy with osteomalacia and secondary hyperparathyroidism. ( info)

19/238. Infantile hypertrophic pyloric stenosis in a 5-month-old baby: case report.

    Hypertrophic pyloric stenosis is commonly seen in infants 2 to 4 weeks old. We report a case of pyloric stenosis diagnosed in a boy 5 months and 11 days old suffering from the sudden onset of vomiting. Gastric volvulus was initially diagnosed at another hospital. Abdominal ultrasonography at first using an Acuson 5-MHz transducer revealed a negative diagnosis. However, a tubular pyloric mass measuring 5.5 mm in thickness, 15 mm in the transverse diameter, and 2.0 cm in length was detected by a 7-MHz transducer immediately after the infant vomited. On physical examination, no abdominal mass was palpable. This suggested that this might have been a case of hypertrophic pyloric stenosis which was missed until the infant was older than 5 months. We believe this is the oldest reported case of infantile hypertrophic pyloric stenosis in taiwan. ( info)

20/238. Junctional epidermolysis bullosa with pyloric stenosis presenting with electron microscopic findings suggestive of epidermolysis bullosa simplex.

    We present an infant girl who was born with pyloric stenosis and epidermolysis bullosa (EB). Electron microscopy of a skin biopsy specimen showed findings suggestive of EB simplex, but immunofluorescence (IF) mapping of the same specimen established the diagnosis of junctional EB. Because electron microscopy findings may sometimes be misleading, an EB patient with pyloric stenosis and electron microscopy findings suggestive of EB simplex should have a biopsy specimen examined by immunofluorescence mapping, which may confirm that the patient in fact has junctional EB. ( info)
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